ArticleNeurogenetics2006
Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus.
Article in Neurogenetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 2 of them syntheses that pooled it.
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Who cites it
18 citing papers in PubMed, 2 syntheses or guidelines pooled it, 30 citations in OpenAlex.
- Frequency and spectrum of Wolcott-Rallison syndrome in Saudi Arabia: a systematic review.The Libyan journal of medicine · 2013Pooled it
- Meta-analysis of gene-based genome-wide association studies of bone mineral density in Chinese and European subjects.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2012Pooled it
- The PERK inhibitor GSK2606414 evokes developmental defects in zebrafish consistent with Wolcott-Rallison syndrome phenotypes.Pharmacological reports : PR · 2026Article
- Neonatal and Syndromic Forms of Diabetes.Current diabetes reports · 2025Review
- Lissencephaly-pachygyria spectrum in a North Indian boy with Wolcott-Rallison syndrome due to homozygous deletion of exon 1 in the EIF2AK3 gene.Pediatric endocrinology, diabetes, and metabolism · 2021Article
- Monogenic and syndromic diabetes due to endoplasmic reticulum stress.Journal of diabetes and its complications · 2021Article
- A novel splice site indel alteration in the EIF2AK3 gene is responsible for the first cases of Wolcott-Rallison syndrome in Hungary.BMC medical genetics · 2020Article
- A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly.Diabetes · 2015Article
- Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder.Pediatric diabetes · 2014Article
- tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans.PLoS genetics · 2013Article
- A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS).American journal of medical genetics. Part A · 2012Article
- Exome sequencing can improve diagnosis and alter patient management.Science translational medicine · 2012Article
- Wolcott-Rallison syndrome due to a novel mutation (R491X) in EIF2AK3 gene.Journal of clinical research in pediatric endocrinology · 2012Article
- New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect.American journal of medical genetics. Part A · 2011Article
- Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors.American journal of human genetics · 2011Article
- Wolcott-Rallison syndrome.Orphanet journal of rare diseases · 2010Review
- Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families.The Journal of clinical endocrinology and metabolism · 2009Article
- Imaging of the brain in children with type I diabetes mellitus.Pediatric radiology · 2007Review
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Two families are presented with a child suffering from microcephaly with a simplified gyral pattern of the brain (SGP) and early onset insulin dependent diabetes mellitus (IDDM). The first patient was diagnosed postmortally with Wolcott-Rallison syndrome, after her younger brother developed IDDM, and a homozygous mutation in the eukaryotic translation initiation factor 2-alpha kinase 3 was found. The younger brother did not undergo magnetic resonance imaging (MRI). The patient from the second family has no EIF2AK3 mutation. SGP is considered to arise from decreased neuronal proliferation or increased apoptosis at an early stage of embryonal development, but insight into the pathways involved is minimal. EIF2AK3 is involved in translation initiation. It has been proposed that loss of function mutations reduce the ability of the cell to respond to endoplasmic reticulum stress, resulting in apoptosis of pancreatic Langerhans cells. Our findings suggest that in some cases, early onset IDDM and SGP can arise from common mechanisms leading to increased apoptosis.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.